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ProteomicsNeo N-termiome of SPG7, AFG3L2, SPG7 AFG3L2 and WT HeLa cells
To understand how OMA1 affects mitochondrial proteostasis and stress responses, we performed a proteomic survey of OMA1-deficient cells for proteolytic substrates. We demonstrate that OMA1 cleaves the mitochondrial chaperone DNAJC15 facilitating its degradation by the mitochondrial m-AAA protease. T...
ORGANISM(S): Homo sapiens (Human) 
2025-12-19 | PXD061137 | Pride
Human Neon Spg7 Hela Afg3l2 
GenomicsSynapse related gene expression is downregulated in SPG7 patient induced pluripotent stem cell derived cortical neurons
Synapse related gene expression is downregulated in SPG7 patient induced pluripotent stem cell derived cortical neurons
PRJNA975577 | ENA
UnknownSPG7 and Impaired Emotional Communication.
Not available
S-EPMC5325812 | biostudies-literature
TranscriptomicsSynapse related gene expression is downregulated in SPG7 patient induced pluripotent stem cell derived cortical neurons
To understand the disease mechanism of SPG7 hereditary spastic paraplegia, we generated and evaluated patient and control induced pluripotent stem cell derived cortical neurons. We then performed gene expression profiling analysis using data obtained from RNA-seq.
ORGANISM(S): Homo sapiens 
2023-05-30 | GSE233258 | GEO
UnknownSPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia.
Not available
S-EPMC7419373 | biostudies-literature
UnknownClinical and Genetic Analyses of SPG7 in Japanese Patients with Undiagnosed Ataxia.
Not available
S-EPMC12393939 | biostudies-literature
UnknownSPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
Not available
S-EPMC5070891 | biostudies-literature
UnknownImpaired flickering of the permeability transition pore causes SPG7 spastic paraplegia.
Not available
S-EPMC7553352 | biostudies-literature
UnknownSPG7 Is an Essential and Conserved Component of the Mitochondrial Permeability Transition Pore.
Not available
S-EPMC4592475 | biostudies-literature
Unknown<i>SPG7</i> mutation - Novel phenotypic presentation mimicking idiopathic Parkinson's disease.
Not available
S-EPMC11609689 | biostudies-literature
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